Incidental Mutation 'R4551:Cox20'
ID 333934
Institutional Source Beutler Lab
Gene Symbol Cox20
Ensembl Gene ENSMUSG00000026500
Gene Name cytochrome c oxidase assembly protein 20
Synonyms Fam36a, 2310005N03Rik
MMRRC Submission 041782-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4551 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 178146695-178150258 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 178150114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 96 (N96T)
Ref Sequence ENSEMBL: ENSMUSP00000027781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027781] [ENSMUST00000037748] [ENSMUST00000161769]
AlphaFold Q9D7J4
Predicted Effect probably benign
Transcript: ENSMUST00000027781
AA Change: N96T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027781
Gene: ENSMUSG00000026500
AA Change: N96T

DomainStartEndE-ValueType
Pfam:DUF3767 9 104 5.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037748
SMART Domains Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 2e-30 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 791 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159117
Predicted Effect probably benign
Transcript: ENSMUST00000161769
SMART Domains Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 6.7e-31 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 773 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162916
Predicted Effect probably benign
Transcript: ENSMUST00000188044
Predicted Effect probably benign
Transcript: ENSMUST00000189450
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T G 11: 119,902,395 (GRCm39) E610A probably benign Het
Abhd17b T C 19: 21,658,290 (GRCm39) S176P possibly damaging Het
Adgrg7 A G 16: 56,568,375 (GRCm39) Y427H probably damaging Het
Alox15 T A 11: 70,235,422 (GRCm39) I647L probably benign Het
Ankhd1 C A 18: 36,788,560 (GRCm39) probably null Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
C4bp A G 1: 130,564,464 (GRCm39) Y407H possibly damaging Het
Cog6 T A 3: 52,905,741 (GRCm39) E96V probably damaging Het
Cpa3 T C 3: 20,273,934 (GRCm39) I351V probably benign Het
Cpd C T 11: 76,702,712 (GRCm39) G552D probably damaging Het
Cyld A G 8: 89,433,762 (GRCm39) K184E possibly damaging Het
Dab2 G A 15: 6,464,775 (GRCm39) G324D probably damaging Het
Depdc1a T A 3: 159,228,221 (GRCm39) D324E probably damaging Het
Dnah9 T C 11: 65,732,192 (GRCm39) E4238G probably damaging Het
Dync1i1 T A 6: 5,923,206 (GRCm39) D275E probably benign Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Farp2 T A 1: 93,546,314 (GRCm39) L868Q possibly damaging Het
Gpr45 A G 1: 43,071,950 (GRCm39) T198A probably benign Het
Grk2 C T 19: 4,336,084 (GRCm39) V402M possibly damaging Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Gtf2h3 A G 5: 124,728,482 (GRCm39) probably benign Het
Hus1b C A 13: 31,131,059 (GRCm39) S200I probably damaging Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ikbke T C 1: 131,185,770 (GRCm39) probably benign Het
Kat6b A G 14: 21,711,516 (GRCm39) E670G probably damaging Het
Kif26b T A 1: 178,711,600 (GRCm39) I740N probably damaging Het
Lhx3 G A 2: 26,091,202 (GRCm39) P369L probably damaging Het
Man2c1 T C 9: 57,038,445 (GRCm39) L35P probably damaging Het
Mical2 T A 7: 111,981,123 (GRCm39) S366T possibly damaging Het
Mroh9 A T 1: 162,871,662 (GRCm39) I607N probably damaging Het
Mybphl T C 3: 108,281,479 (GRCm39) I65T possibly damaging Het
Myo1g A G 11: 6,467,874 (GRCm39) I187T probably damaging Het
Myo7b T C 18: 32,118,161 (GRCm39) S822G probably benign Het
Nkx2-4 C A 2: 146,926,842 (GRCm39) A142S probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Odf4 C T 11: 68,812,866 (GRCm39) S264N probably benign Het
Or12k7 G T 2: 36,958,355 (GRCm39) V13L probably benign Het
Or13a17 A T 7: 140,271,655 (GRCm39) Y279F probably damaging Het
Or56b1 A T 7: 104,285,631 (GRCm39) H250L probably damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Parpbp T A 10: 87,929,564 (GRCm39) Q428L possibly damaging Het
Pcdhb16 T C 18: 37,612,887 (GRCm39) F616L probably damaging Het
Pdk3 A T X: 92,825,846 (GRCm39) M253K probably damaging Het
Pgap2 C A 7: 101,875,674 (GRCm39) probably benign Het
Pkhd1l1 C A 15: 44,414,281 (GRCm39) N2849K probably damaging Het
Pprc1 A G 19: 46,055,664 (GRCm39) probably benign Het
Psma2 A G 13: 14,791,430 (GRCm39) Y25C possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpn5 C A 7: 46,740,600 (GRCm39) probably benign Het
Pxn G T 5: 115,690,779 (GRCm39) probably benign Het
Scd3 C A 19: 44,203,878 (GRCm39) A22E probably benign Het
Sdr42e1 T C 8: 118,390,347 (GRCm39) E98G probably benign Het
Slc14a2 A C 18: 78,239,068 (GRCm39) S184A probably benign Het
Tmem236 A T 2: 14,223,964 (GRCm39) Q251L probably benign Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Vmn1r90 A C 7: 14,295,894 (GRCm39) M68R possibly damaging Het
Vmn2r105 A G 17: 20,446,613 (GRCm39) V462A probably benign Het
Vmn2r7 T C 3: 64,598,110 (GRCm39) T816A possibly damaging Het
Vmn2r81 T A 10: 79,104,241 (GRCm39) I288K possibly damaging Het
Zfp180 A C 7: 23,803,998 (GRCm39) K139T possibly damaging Het
Zfp932 T C 5: 110,157,505 (GRCm39) V401A probably benign Het
Other mutations in Cox20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02154:Cox20 APN 1 178,150,119 (GRCm39) missense probably benign 0.01
IGL02318:Cox20 APN 1 178,150,043 (GRCm39) splice site probably null
R2128:Cox20 UTSW 1 178,149,512 (GRCm39) missense probably benign 0.00
R5344:Cox20 UTSW 1 178,149,598 (GRCm39) unclassified probably benign
R6155:Cox20 UTSW 1 178,149,362 (GRCm39) missense possibly damaging 0.67
R7653:Cox20 UTSW 1 178,150,164 (GRCm39) missense probably benign 0.05
R7780:Cox20 UTSW 1 178,149,566 (GRCm39) missense probably benign 0.20
R7840:Cox20 UTSW 1 178,150,126 (GRCm39) missense probably benign 0.04
R9332:Cox20 UTSW 1 178,146,771 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGACCCAAGAGATTCCTACAGTG -3'
(R):5'- TGGCATGGTCTAACAAACATACTG -3'

Sequencing Primer
(F):5'- CCTACAGTGTTTGTTCTACAACAGG -3'
(R):5'- GGTCTAACAAACATACTGTACTGGC -3'
Posted On 2015-08-18